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Article

New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.

Journal of clinical lipidology - 1 Jan 2000

Serveaux Dancer Marine, Di Filippo Mathilde, Marmontel Oriane, Valéro René, Piombo Rivarola Maria Del Carmen, Peretti Noël, Caussy Cyrielle, Krempf Michel, Vergès Bruno, Mahl Murielle, Marçais Christophe, Moulin Philippe, Charrière Sybil

Abstract excerpt

BACKGROUND: The LMF1 (lipase maturation factor 1) gene encodes a protein involved in lipoprotein lipase and hepatic lipase maturation. Homozygous mutations in LMF1 leading to severe hypertriglyceridemia (SHTG) are rare in the literature. A few additional rare LMF1 variants have been described with poor functional studies. OBJECTIVE: The aim of this study was to assess the frequency of LMF1 variants in a cohort of...

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Source

Identifiers

PMID: 30037590
DOI: 10.1016/j.jacl.2018.06.018

Genes

LMF1
LPL
APOA5
APOC2
GPIHBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

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New rare genetic variants of LMF1 gene identified in severe hypertriglyceridemia.PMID 30037590Read ↗

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A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.Semantic proximity Read ↗

[Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].Semantic proximity Read ↗

Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.Semantic proximity Read ↗

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.Semantic proximity Read ↗

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Lipoprotein Lipase: Structure, Function, and Genetic VariationSemantic proximity Read ↗

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Homozygous variant in LMF-1 identified in 3 Colombian families.Semantic proximity Read ↗

Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.Semantic proximity Read ↗

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.Semantic proximity Read ↗

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